Dear Colleague,
the interpretation you requested is ready:
| Gene | SLC6A1 |
| Mutation (gDNA level) | chr3-11059037-G-A |
| Mutation (cDNA level) | c.140G>A |
| Reference sequence | NM_003042.3 |
| Mutation (protein level) | W47* (p.Trp47*) |
| Exon location | exon 3 of 16 |
| Amino acid location | aa 47 of 600 |
| Associated phenotype | Myoclonic-atonic epilepsy |
| Interepretation | very likely pathogenic |
| Notes | Pathogenic mutations in this gene have been postulated to result in loss of function. This mutation is likely to result in protein truncation or protein loss due to nonsense-mediated messenger decay. |
References: OMIM 616421
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